Canonical Allele Identifier: CA2499216063

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1049344
• ClinVar RCV Id: RCV001355344
• dbSNP Id: rs2104368001

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476365_47476572del , CM000664.2:g.47476365_47476572del	GRCh38
NC_000002.11:g.47703504_47703711del , CM000664.1:g.47703504_47703711del	GRCh37
NC_000002.10:g.47557008_47557215del	NCBI36
NG_007110.2:g.78242_78449del , LRG_218:g.78242_78449del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2006-2_2210+1del
ENST00000233146.7:c.2006-2_2210+1del
ENST00000543555.6:c.1808-2_2012+1del
ENST00000644092.1:c.*306-2_*510+1del
ENST00000645339.1:c.2006-2_2210+1del
ENST00000645506.1:c.2006-2_2210+1del
ENST00000646415.1:c.2006-2_2210+1del
ENST00000233146.6:c.2006-2_2210+1del
ENST00000406134.5:c.2006-2_2210+1del
ENST00000543555.5:c.1808-2_2012+1del
ENST00000610696.4:c.*402-2_*606+1del
ENST00000613514.4:c.*546-2_*750+1del
ENST00000617333.3:c.*772-2_*976+1del
ENST00000617938.4:c.*978-2_*1182+1del
ENST00000621359.2:c.2006-2_2210+1del
NM_000251.2:c.2006-2_2210+1del , LRG_218t1:c.2006-2_2210+1del
NM_001258281.1:c.1808-2_2012+1del
XM_005264332.2:c.2006-2_2210+1del
XM_011532867.1:c.2006-2_2210+1del
XR_939685.1:n.2078-2_2282+1del
XM_005264332.4:c.2006-2_2210+1del
XM_011532867.2:c.2006-2_2210+1del
XR_001738747.2:n.2068-2_2272+1del
XR_939685.2:n.2068-2_2272+1del
NM_000251.3:c.2006-2_2210+1del